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NM_000257.4(MYH7):c.2963T>G (p.Ile988Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000482502.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2963T>G (p.Ile988Ser)]

NM_000257.4(MYH7):c.2963T>G (p.Ile988Ser)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.2963T>G (p.Ile988Ser)
HGVS:
  • NC_000014.9:g.23423683A>C
  • NG_007884.1:g.16979T>G
  • NM_000257.4:c.2963T>GMANE SELECT
  • NP_000248.2:p.Ile988Ser
  • LRG_384t1:c.2963T>G
  • LRG_384:g.16979T>G
  • NC_000014.8:g.23892892A>C
  • NM_000257.2:c.2963T>G
Protein change:
I988S
Links:
dbSNP: rs989475429
NCBI 1000 Genomes Browser:
rs989475429
Molecular consequence:
  • NM_000257.4:c.2963T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000573162GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Feb 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000573162.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The I988S variant has not been publishedas pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts (Lek et al.,2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I988S variant is a non-conservativeamino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity,charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved throughmammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damagingto the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024